Variant (rsID / SNP)

rs80359107

rs80359107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRCA2. Location: chromosome 13, position 32,945,133. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRCA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:32945133
Cytoband: 13q13.1
HGVS: NM_000059.4(BRCA2):c.8528A>G (p.Asn2843Ser)
Allele change: Missense_N2843S

Associated conditions / phenotypes

Breast-ovarian cancer, familial, susceptibility to, 2|Hereditary breast ovarian cancer syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.